ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1811A>T (p.Asn604Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004517841 SCV005029250 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-11 criteria provided, single submitter clinical testing The p.N604I variant (also known as c.1811A>T), located in coding exon 12 of the BRIP1 gene, results from an A to T substitution at nucleotide position 1811. The asparagine at codon 604 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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